T640N (p.Thr640Asn) variant of CSF3R (Q99062)
T640N (p.Thr640Asn) in CSF3R (Q99062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary neutrophilia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T640N (p.Thr640Asn) variant details
- p.Thr640Asn
- rs121918426
- ClinGen CA126148
- cosmic curated COSV58963
- ClinVar RCV000017378
- Pathogenic
- Hereditary neutrophilia
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- AlphaMissense 0.06
- MetaLR 0.03
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.54
- EVE 0.04
- ClinVar: Pathogenic (Hereditary neutrophilia)
- EBI: Pathogenic (in neutrophilia)
- UniProt: Pathogenic (in neutrophilia)
- Population evidence available
- Structural context available
- Cited in: An activating mutation in the transmembrane domain of the granulocyte colony-stimulating factor receptor in patients… (PMID 12203110)
- Cited in: An activating mutation in the CSF3R gene induces a hereditary chronic neutrophilia. (PMID 19620628)